Chromosome: | chr18 |
Position (hg19): | 21114502 |
Reference: | A |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3499T>C |
AA change: | p.Phe1167Leu |
Exon/intron: | 23 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00005765 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 5 (pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Carstea_et_al._(1997)_Science_277:180-181 |